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Lots of Stuff -- April 16, 2003

It's been awhile since the last update and much has happened. So I'll try to summarize...

~ We had a visit with Dr. Gleeson at Children's Hospital of San Diego. He is one of four researchers in the U.S. trying to identify the gene or genes involved in Joubert Syndrome. He confirmed Sam's diagnosis and gave us a very helpful schedule of tests and screenings recommended for kids with Joubert. We opted to take part in the study and donate some blood in hopes that someday there will be a simple blood test to identify carriers of the Joubert gene/s.

~ Sam pulled another scary "blue baby". This one I'll refer to as his "code blue baby" since we were in the hospital cafeteria in San Diego and they called a code blue. This was truly the scariest one to date. As David and I tried unsuccessfully to resuscitate him a wonderful, amazing, awesome, brilliant, fantastic, beautiful speciman of humanity came over and took over the mouth-to-mouth which worked in getting Sam to breathe. Yes, this person was a doctor on his lunch break - but that's beside the point. He just may have saved Sam's life. We were briefly admitted to the ER and, needless to say, it was a very long drive back to Orange County.

~ During our most recent visit to the neurosurgeon we discussed the small bump on the back of Sam's head. No one is quite sure what it is but the neurosurgeon suspects it is a meningocele. The plan has always been to remove it but lately we've noticed the bump shrinking in size. Now we're just trying to get in touch with the neurosurgeon to check if a 'wait and see' approach is safe.

~ We've qualified for respite care through the Regional Center of Orange County. This means that a Licensed Vocational Nurse comes to our house to care for Sam. We're alloted 20 hours/month and can spread out those hours or use them in one big chunk. We had our first visit yesterday and it worked out great since Sam was asleep the entire time. I was able to organize an area of the house that I'd been meaning to get to since we first moved here 8 months ago. It was nice not to be confined to the same room as Sam. Unfortunately, I really didn't care much for the nurse. She didn't have the warmest personality. We're trying a different nurse next week and she sounded a bit more human over the phone. But I don't know how much of a difference that will make. I just can't bear leaving him alone with anyone who is not absolutely in love with him.

~ Sam has been receiving occupational and physical therapy once a week. The therapists are wonderful! Because he's still so young they don't do much more than dangle pretty objects in front of him, but they adore him and always offer lots of encouragement.

~ We've been concerned with Sam's vision for awhile and have gotten in touch with the Braille Institute to help with some assessment. We're pretty sure he can see, we're just not sure how well. I guess when you have a brain malformation you can have some pretty funky vision things going on. His hearing, on the other hand, is great; with a noisy 3 year old in the house this hasn't exactly been a good thing.

~ The best news is that Sam has been sleeping through the night (and I'm talking 7 or 8 hours some nights!).

had i not crested each wave of labor to your glorious
emergence
had i not been there for your debut
i would have thought you were dropped from heaven
your body damaged in the fall
but your spirit whole — big, beautiful and pure

never imagining my love to be so complete and selfless
not expecting my fierce desire to make your little body able
and perfect
or my fear to change anything
lest my meddling somehow diminish your beauty